Delivery of a Clinical Genomics Service

Genes

William G. Newman¹ 

[1] Manchester Centre for Genomic Medicine, University of Manchester, Manchester, M13 9WL, UK

关键词: next generation sequencing;    rare disease;    exome;    panel testing;   

DOI  :  10.3390/genes5041001

来源: mdpi

【 摘 要 】

Over the past five years, next generation sequencing has revolutionised the discovery of genes responsible for rare inherited diseases previously resistant to traditional discovery techniques. This review considers how this new technology is being introduced into clinical practice to aid diagnosis and improve the clinical management of individuals and families affected by rare diseases where access to genetic testing was previously limited. We compare and contrast the different approaches that have been adopted including panel based tests, exome and genome sequencing. We provide insights from our own clinical practice demonstrating the challenges and benefits of this new technology.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.